Guest guest Posted August 31, 2006 Report Share Posted August 31, 2006 I am sorry that I have not been following this thread. I have been very busy these past weeks and have just skimmed through stuff. I want to take the time to explain a little about MDS to you. For those of you who do not know me, I am the co-founder and president of International Mosaic Down Syndrome Association and the leading expert on MDS. I recently gave a workshop on MDS at the NDSC convention. If you would like to hear my workshop, you can purchase a CD from NDSC. When a person has MDS there are two cells lines in the body. One cell line has the extra chromosomes that cause trisomy 21 or translocation. The other cell line does not have the extra chromosomes and is typical. Each person has a different percentage of cells in different areas of the body. Where the affected cells are located determines what areas of development and health will be affected. To test for MDS is easy (although some doctors will tell you it is not) Testing for MDS is similar to testing for T21 or translocation. A blood test is administered, but it is recommended that more cells are studied. Typically when Ds is looked at in blood the lab will take 20 cells. It is recommended that 50 cells are looked at instead, in order to see the typical cells. In addition, a person with MDS may have affected cells only in the skin. So, it is recommended that a skin test be done. Depending on your area, skin tests can be done in two different ways. Either they will take a small tooth brush and brush the inside of the cheek for a sample, or they will take a small piece of skin from the body. Then they will be able to test these cells for MDS. The average age for a person to be diagnosed with MDS is between 1 and 3 years old. The reason for a late diagnosis is usually because of the lack of or mild physical characteristics and less of a delay in milestones. Although, since IMDSA's conception, more and more are getting diagnosed at birth. Very often a person is diagnosed with T21 when in reality they actually have MDS. There are many reasons for this. First, they are clinically diagnosed. This means that a blood test was never taken and the doctor just looks at the physical characteristics and decides that they person has T21. Second, enough blood cells are not taken or a skin test is not done. When this happens they only see the T21 cells and not the typical cells. Third, a doctor does know that there are typical cells present, but instead of explaining MDS, it is easier to explain T21, so they just leave out the information. Often a person with MDS is born with more physical characteristics and as they grow the characteristics begin to disappear. The reason this happens is because the typical cells begin to rejuvinate and the percentage of affected cells begin to change. So, when this happens the physical characteristics can change. On average, a person with MDS crawls and sits unassisted about 2 months before a person with Ds. But let me stress that this is an average and not necessarily the absolute. I would suggest that if your child has very mild features, was diagnosed months or years after birth, or crawled and/or sat up earlier than the average person with Down syndrome, you speak with your doctor about seeing the karyotype that was done to determine Ds and ask about having more blood cells (50) and skin cells tested to be sure that your child does not have MDS. If you would like more information on MDS you can visit our website www.imdsa.com I hope some of this info has helped Kristy Colvin IMDSA President Mom to Arron 24, 21, Tim 20MDS, Stevan 19 and Garrett 10 Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 31, 2006 Report Share Posted August 31, 2006 Hi Kristy, Thanks so much for this info. I think I will contact our geneticist again to see about a MDS test for Will. It's always been in the back of my mind, however, I don't want to " bother " the doctors...(which I know is the wrong attitude!) I didn't know that MDS was usually diagnosed later. Will is almost a year old now. Do you have any advise on how to get our insurance company to cover the cost of the testing? I'm willing to pay for it if necessary. But I also find that sometimes doctors will not want to test or something simply b/c it's not covered. Thanks again! > > > I am sorry that I have not been following this thread. I have been > very busy these past weeks and have just skimmed through stuff. > > I want to take the time to explain a little about MDS to you. > > For those of you who do not know me, I am the co-founder and president > of International Mosaic Down Syndrome Association and the leading > expert on MDS. I recently gave a workshop on MDS at the NDSC > convention. If you would like to hear my workshop, you can purchase a > CD from NDSC. > > When a person has MDS there are two cells lines in the body. One cell > line has the extra chromosomes that cause trisomy 21 or translocation. > The other cell line does not have the extra chromosomes and is > typical. Each person has a different percentage of cells in different > areas of the body. Where the affected cells are located determines > what areas of development and health will be affected. > > To test for MDS is easy (although some doctors will tell you it is not) > Testing for MDS is similar to testing for T21 or translocation. A > blood test is administered, but it is recommended that more cells are > studied. Typically when Ds is looked at in blood the lab will take 20 > cells. It is recommended that 50 cells are looked at instead, in order > to see the typical cells. In addition, a person with MDS may have > affected cells only in the skin. So, it is recommended that a skin > test be done. Depending on your area, skin tests can be done in two > different ways. Either they will take a small tooth brush and brush > the inside of the cheek for a sample, or they will take a small piece > of skin from the body. Then they will be able to test these cells for > MDS. > > The average age for a person to be diagnosed with MDS is between 1 and > 3 years old. The reason for a late diagnosis is usually because of the > lack of or mild physical characteristics and less of a delay in > milestones. Although, since IMDSA's conception, more and more are > getting diagnosed at birth. > > Very often a person is diagnosed with T21 when in reality they > actually have MDS. There are many reasons for this. First, they are > clinically diagnosed. This means that a blood test was never taken and > the doctor just looks at the physical characteristics and decides that > they person has T21. Second, enough blood cells are not taken or a > skin test is not done. When this happens they only see the T21 cells > and not the typical cells. Third, a doctor does know that there are > typical cells present, but instead of explaining MDS, it is easier to > explain T21, so they just leave out the information. > > Often a person with MDS is born with more physical characteristics and > as they grow the characteristics begin to disappear. The reason this > happens is because the typical cells begin to rejuvinate and the > percentage of affected cells begin to change. So, when this happens > the physical characteristics can change. > > On average, a person with MDS crawls and sits unassisted about 2 > months before a person with Ds. But let me stress that this is an > average and not necessarily the absolute. > > I would suggest that if your child has very mild features, was > diagnosed months or years after birth, or crawled and/or sat up > earlier than the average person with Down syndrome, you speak with > your doctor about seeing the karyotype that was done to determine Ds > and ask about having more blood cells (50) and skin cells tested to be > sure that your child does not have MDS. > > > If you would like more information on MDS you can visit our website > www.imdsa.com > > I hope some of this info has helped > Kristy Colvin > IMDSA President > Mom to Arron 24, 21, Tim 20MDS, Stevan 19 and Garrett 10 > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 31, 2006 Report Share Posted August 31, 2006 I am glad you pointed this out . A lot of people believe that if you have MDS you are " better off " than a person with Ds. This is SO not true! We ARE all in the same boat together here! And, because everyone is an individual, no one is exactly the same anyway! My son, with MDS, is highly intelligent, but he has extreme lack of social skills and very little common sense. He is unable to really communicate with his peers and most of the individuals with Ds that I have met, can communicate with their peers without a problem! Another point that I think needs to be made is, there is a great myth that if a person does not have all the physical characteristics of Ds then they must be " Ok " and not affected cognitively. This is definately not true! The reason those features are not present is because the extra cells that affect the physical features are just not there in that area. Kristy > > Hi Kristy, > > Thanks for the explination of MDS. Its facinating stuff. > > But I would also like to point out that in DS and MDS there are wide range > of abilities, and exceptions to every rule you can possibly think of. > > What I want to be sure everyone knows, is that if your child is DS and not > MDS, it does not mean they are going to be lower functioning, or that you > need to lower expectations because they are not mosiac. Within both those > are wide ranges and they do overlap. All of our children, with our > assistance, will be the best that they can be, including our chromosonally > deficient children (otherwise referred to as the " normal " kids). > > Whether that erroneous split in the genes happened at the first split > (making it DS) or somewhere after that (making it MDS) does not really > matter in the grand scheme of things. We are all in the DS boat, and we > can all learn from each other, help each other, and lift each other up. > > Thanks again Kristy for the great explianation. Great to have you aboard > our " something extra " group. > > Hugs, > Romero > DSAA Treasurer > jules@... > > Down Syndrome Association of Acadiana > > Together...families dream, hope and soar > > -- Re: mosaic Down syndrome > > > I am sorry that I have not been following this thread. I have been > very busy these past weeks and have just skimmed through stuff. > > I want to take the time to explain a little about MDS to you. > > For those of you who do not know me, I am the co-founder and president > of International Mosaic Down Syndrome Association and the leading > expert on MDS. I recently gave a workshop on MDS at the NDSC > convention. If you would like to hear my workshop, you can purchase a > CD from NDSC. > > When a person has MDS there are two cells lines in the body. One cell > line has the extra chromosomes that cause trisomy 21 or translocation. > The other cell line does not have the extra chromosomes and is > typical. Each person has a different percentage of cells in different > areas of the body. Where the affected cells are located determines > what areas of development and health will be affected. > > To test for MDS is easy (although some doctors will tell you it is not) > Testing for MDS is similar to testing for T21 or translocation. A > blood test is administered, but it is recommended that more cells are > studied. Typically when Ds is looked at in blood the lab will take 20 > cells. It is recommended that 50 cells are looked at instead, in order > to see the typical cells. In addition, a person with MDS may have > affected cells only in the skin. So, it is recommended that a skin > test be done. Depending on your area, skin tests can be done in two > different ways. Either they will take a small tooth brush and brush > the inside of the cheek for a sample, or they will take a small piece > of skin from the body. Then they will be able to test these cells for > MDS. > > The average age for a person to be diagnosed with MDS is between 1 and > 3 years old. The reason for a late diagnosis is usually because of the > lack of or mild physical characteristics and less of a delay in > milestones. Although, since IMDSA's conception, more and more are > getting diagnosed at birth. > > Very often a person is diagnosed with T21 when in reality they > actually have MDS. There are many reasons for this. First, they are > clinically diagnosed. This means that a blood test was never taken and > the doctor just looks at the physical characteristics and decides that > they person has T21. Second, enough blood cells are not taken or a > skin test is not done. When this happens they only see the T21 cells > and not the typical cells. Third, a doctor does know that there are > typical cells present, but instead of explaining MDS, it is easier to > explain T21, so they just leave out the information. > > Often a person with MDS is born with more physical characteristics and > as they grow the characteristics begin to disappear. The reason this > happens is because the typical cells begin to rejuvinate and the > percentage of affected cells begin to change. So, when this happens > the physical characteristics can change. > > On average, a person with MDS crawls and sits unassisted about 2 > months before a person with Ds. But let me stress that this is an > average and not necessarily the absolute. > > I would suggest that if your child has very mild features, was > diagnosed months or years after birth, or crawled and/or sat up > earlier than the average person with Down syndrome, you speak with > your doctor about seeing the karyotype that was done to determine Ds > and ask about having more blood cells (50) and skin cells tested to be > sure that your child does not have MDS. > > If you would like more information on MDS you can visit our website > www.imdsa.com > > I hope some of this info has helped > Kristy Colvin > IMDSA President > Mom to Arron 24, 21, Tim 20MDS, Stevan 19 and Garrett 10 > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 31, 2006 Report Share Posted August 31, 2006 You can purchase the CD of my workshop from NDSC. I am sorry I didn't get to meet you! We all had a fantastic time! I am planning to speak again in Kansas City and of course, we will be having our conference in Richmond. So, hopefully we will meet at one of these conferences! Kristy > > > > Hi Kristy, > > > > Thanks for the explination of MDS. Its facinating stuff. > > > > But I would also like to point out that in DS and MDS there are > wide range > > of abilities, and exceptions to every rule you can possibly think > of. > > > > What I want to be sure everyone knows, is that if your child is DS > and not > > MDS, it does not mean they are going to be lower functioning, or > that you > > need to lower expectations because they are not mosiac. Within > both those > > are wide ranges and they do overlap. All of our children, with > our > > assistance, will be the best that they can be, including our > chromosonally > > deficient children (otherwise referred to as the " normal " kids). > > > > Whether that erroneous split in the genes happened at the first > split > > (making it DS) or somewhere after that (making it MDS) does not > really > > matter in the grand scheme of things. We are all in the DS > boat, and we > > can all learn from each other, help each other, and lift each > other up. > > > > Thanks again Kristy for the great explianation. Great to have > you aboard > > our " something extra " group. > > > > Hugs, > > Romero > > DSAA Treasurer > > jules@ > > > > Down Syndrome Association of Acadiana > > > > Together...families dream, hope and soar > > > > -- Re: mosaic Down syndrome > > > > > > I am sorry that I have not been following this thread. I have been > > very busy these past weeks and have just skimmed through stuff. > > > > I want to take the time to explain a little about MDS to you. > > > > For those of you who do not know me, I am the co-founder and > president > > of International Mosaic Down Syndrome Association and the leading > > expert on MDS. I recently gave a workshop on MDS at the NDSC > > convention. If you would like to hear my workshop, you can > purchase a > > CD from NDSC. > > > > When a person has MDS there are two cells lines in the body. One > cell > > line has the extra chromosomes that cause trisomy 21 or > translocation. > > The other cell line does not have the extra chromosomes and is > > typical. Each person has a different percentage of cells in > different > > areas of the body. Where the affected cells are located determines > > what areas of development and health will be affected. > > > > To test for MDS is easy (although some doctors will tell you it is > not) > > Testing for MDS is similar to testing for T21 or translocation. A > > blood test is administered, but it is recommended that more cells > are > > studied. Typically when Ds is looked at in blood the lab will take > 20 > > cells. It is recommended that 50 cells are looked at instead, in > order > > to see the typical cells. In addition, a person with MDS may have > > affected cells only in the skin. So, it is recommended that a skin > > test be done. Depending on your area, skin tests can be done in > two > > different ways. Either they will take a small tooth brush and > brush > > the inside of the cheek for a sample, or they will take a small > piece > > of skin from the body. Then they will be able to test these cells > for > > MDS. > > > > The average age for a person to be diagnosed with MDS is between 1 > and > > 3 years old. The reason for a late diagnosis is usually because of > the > > lack of or mild physical characteristics and less of a delay in > > milestones. Although, since IMDSA's conception, more and more are > > getting diagnosed at birth. > > > > Very often a person is diagnosed with T21 when in reality they > > actually have MDS. There are many reasons for this. First, they > are > > clinically diagnosed. This means that a blood test was never taken > and > > the doctor just looks at the physical characteristics and decides > that > > they person has T21. Second, enough blood cells are not taken or a > > skin test is not done. When this happens they only see the T21 > cells > > and not the typical cells. Third, a doctor does know that there > are > > typical cells present, but instead of explaining MDS, it is easier > to > > explain T21, so they just leave out the information. > > > > Often a person with MDS is born with more physical characteristics > and > > as they grow the characteristics begin to disappear. The reason > this > > happens is because the typical cells begin to rejuvinate and the > > percentage of affected cells begin to change. So, when this > happens > > the physical characteristics can change. > > > > On average, a person with MDS crawls and sits unassisted about 2 > > months before a person with Ds. But let me stress that this is an > > average and not necessarily the absolute. > > > > I would suggest that if your child has very mild features, was > > diagnosed months or years after birth, or crawled and/or sat up > > earlier than the average person with Down syndrome, you speak with > > your doctor about seeing the karyotype that was done to determine > Ds > > and ask about having more blood cells (50) and skin cells tested > to be > > sure that your child does not have MDS. > > > > If you would like more information on MDS you can visit our > website > > www.imdsa.com > > > > I hope some of this info has helped > > Kristy Colvin > > IMDSA President > > Mom to Arron 24, 21, Tim 20MDS, Stevan 19 and Garrett 10 > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 1, 2006 Report Share Posted September 1, 2006 I wish that I did have a good solution for that problem! It is difficult to get your insurance agency to approve the test. If you can't pay for it yourself, then perhaps you can join a research study that takes blood and tissue samples and they could give you results. (Make sure to ask them what their turn around is in giving you results. This can be a problem sometimes) Kristy Hi Kristy,Thanks so much for this info. I think I will contact our geneticist again to see about a MDS test for Will. It's always been in the back of my mind, however, I don't want to "bother" the doctors...(which I know is the wrong attitude!) I didn't know that MDS was usually diagnosed later. Will is almost a year old now.Do you have any advise on how to get our insurance company to cover the cost of the testing? I'm willing to pay for it if necessary. But I also find that sometimes doctors will not want to test or something simply b/c it's not covered.Thanks again! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 1, 2006 Report Share Posted September 1, 2006 That is a good question Janis and one that many ask! There are many reasons to get a proper diagnosis. First of all, it is a parent's right to know what exactly is going on with their child, and many parents feel strongly about wanting a proper diagnosis. Another reason is because there are conflicting reports of how many people actually have MDS. Some reports say 1% of the Ds community and other reports say 3-4% have MDS. So, without accurate diagnosis there is no way to know exactly how many people have MDS. Knowing if a person has MDS or Ds will help with research to better understand how MDS and Ds happens and we will be able to discover certain genes that cause cancer, Alzheimer Disease, Autism and other diseases that are related to Down syndrome. Finally, there are some significant differences in behavior and development concerning MDS compared to Ds. A person with MDS does crawl, sit up, and walk before a person with Ds, but their speech is more delayed. My son, with MDS, and others that I know seem to have more trouble socially than those with Ds. It could possibly be because of the mixture of the cell lines. We would like to research this more to find out why these things occur, but without proper diagnosis it makes it harder to research. You are right, the therapies for early intervention are tailored to the individual, but as the person grows and with some who have less physical characteristics, parents have difficulty with the schools and therapists because they do not understand that the child has MDS regardless of how much the parent tries to explain it. The children are often misunderstood and are not given the help they deserve because they don't look like they have Down syndrome. So, when a parent has this problem, we try to help them with their schools and therapists. I hope this has helped you understand this more. Kristy Colvin IMDSA President www.imdsa.com This is the part I don't quite understand. If your child is already diagnosed with DS, why would it be important to re-test for MDS? Presumably we all know each child is different and that being DS or MDS does not predict the future, as there is a lot of overlap. And therapies will all be tailored to your child's individual abilities anyway...So, what difference does it make other than semantic? (I'm really just wondering... I'm not criticizing)Janis Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 1, 2006 Report Share Posted September 1, 2006 Cheryl A person with T21 automatically qualifies for SSI, but a person with MDS qualifies on an individual basis. So, it depends on the child's abilities and that is what SSI looks at. If they are already on SSI the Social Security office will not take the SSI away (the way I understand it) And, if they are on SSI, it will not be taken away when they become an adult unless they are working and making enough money. You do have to go through an evaluation process, but it is just a formality because the person still has the extra chromosomes that disabled them in the first place. Kristy And I don't know if this is true or not, but if your child is diagnosed with MDS then he/she will not qualify for SSI. This may not matter now, but it will when they are older. Does anybody know if this is true? Cheryl Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 1, 2006 Report Share Posted September 1, 2006 KK What exactly are Casey's delays and where is he at age level for his milestones? MDS would not necessarily be suspected because of advanced development, it would be more warrented if there were less physical characteristics present It is NEVER too late to be tested! We have many adults who are dx after the age of 20 and sometimes 30! Kristy > > Hi, Kristy, > > Yeah, I compared my son, Casey, to those dear angels, and I could see that > Casey has a mild condition. Now he is 3.8 years old. Is it too late to > test him?? Thanks, and I appreciate your effort to describe Mosaic DS. > > kk > > -- Re: mosaic Down syndrome > > > I am sorry that I have not been following this thread. I have been > very busy these past weeks and have just skimmed through stuff. > > I want to take the time to explain a little about MDS to you. > > For those of you who do not know me, I am the co-founder and president > of International Mosaic Down Syndrome Association and the leading > expert on MDS. I recently gave a workshop on MDS at the NDSC > convention. If you would like to hear my workshop, you can purchase a > CD from NDSC. > > When a person has MDS there are two cells lines in the body. One cell > line has the extra chromosomes that cause trisomy 21 or translocation. > The other cell line does not have the extra chromosomes and is > typical. Each person has a different percentage of cells in different > areas of the body. Where the affected cells are located determines > what areas of development and health will be affected. > > To test for MDS is easy (although some doctors will tell you it is not) > Testing for MDS is similar to testing for T21 or translocation. A > blood test is administered, but it is recommended that more cells are > studied. Typically when Ds is looked at in blood the lab will take 20 > cells. It is recommended that 50 cells are looked at instead, in order > to see the typical cells. In addition, a person with MDS may have > affected cells only in the skin. So, it is recommended that a skin > test be done. Depending on your area, skin tests can be done in two > different ways. Either they will take a small tooth brush and brush > the inside of the cheek for a sample, or they will take a small piece > of skin from the body. Then they will be able to test these cells for > MDS. > > The average age for a person to be diagnosed with MDS is between 1 and > 3 years old. The reason for a late diagnosis is usually because of the > lack of or mild physical characteristics and less of a delay in > milestones. Although, since IMDSA's conception, more and more are > getting diagnosed at birth. > > Very often a person is diagnosed with T21 when in reality they > actually have MDS. There are many reasons for this. First, they are > clinically diagnosed. This means that a blood test was never taken and > the doctor just looks at the physical characteristics and decides that > they person has T21. Second, enough blood cells are not taken or a > skin test is not done. When this happens they only see the T21 cells > and not the typical cells. Third, a doctor does know that there are > typical cells present, but instead of explaining MDS, it is easier to > explain T21, so they just leave out the information. > > Often a person with MDS is born with more physical characteristics and > as they grow the characteristics begin to disappear. The reason this > happens is because the typical cells begin to rejuvinate and the > percentage of affected cells begin to change. So, when this happens > the physical characteristics can change. > > On average, a person with MDS crawls and sits unassisted about 2 > months before a person with Ds. But let me stress that this is an > average and not necessarily the absolute. > > I would suggest that if your child has very mild features, was > diagnosed months or years after birth, or crawled and/or sat up > earlier than the average person with Down syndrome, you speak with > your doctor about seeing the karyotype that was done to determine Ds > and ask about having more blood cells (50) and skin cells tested to be > sure that your child does not have MDS. > > If you would like more information on MDS you can visit our website > www.imdsa.com > > I hope some of this info has helped > Kristy Colvin > IMDSA President > Mom to Arron 24, 21, Tim 20MDS, Stevan 19 and Garrett 10 > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 2, 2006 Report Share Posted September 2, 2006 More than likely the reason Andy gets SSI is because he has been on it for a while. Back in 2000 they passed a law that said people with Ds automatically qualified for SSI (depending on parents finances) but people with MDS would have to qualify under special guidelines because they have a better chance of not having delays. Kristy Not True because Andy is MDS and he gets SSI and SS. For one thing, we were never asked what type he is and that still wouldn't make a difference because he had to have a Docotors statement in order to receive SSI & SS. Trish Mom to Andy who is almost 35 Quote Link to comment Share on other sites More sharing options...
Recommended Posts
Join the conversation
You are posting as a guest. If you have an account, sign in now to post with your account.
Note: Your post will require moderator approval before it will be visible.